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Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)

FBN1 · rs595244

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 1,516 European ancestry intracranial aneurysm cases, 818 European ancestry abdominal aortic aneurysm cases, 760 European ancestry thoracic aortic aneurysm cases, 9,507 European ancestry controls.

The effect Each copy of the T allele carried 1.35 times the odds of Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) (95% confidence interval 1.25-1.45); p = 1 × 10−8.

How common The T allele had a frequency of about 8% in the people studied.

Where it sits Chromosome 15, band 15q21.1 — in an intron of FBN1.

What each result means

C/C No copy of the version the research linked to Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms
van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P
and 59 more — show all
Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT, Han B, Rinkel GJ, de Bakker PI
Aneurysm Consortium; Vascular Research Consortium of New Zealand
Journal of the American Heart Association · 2016 · PMID 27418160 · open access

Questions about rs595244

What is rs595244?

rs595244 is a single position in the genome, in or near the FBN1 gene. Published research associates it with intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs595244 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs595244 come from?

GWAS Catalog, J Am Heart Assoc 2016, PMID:27418160. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy) (rs595244). MyGeneLog™. https://www.mygenelog.com/variants/rs595244

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